| X | g.68829840T>A | CA413437102 | EFNB1 | c.64T>A (p.Cys22Ser)
| |
| X | g.68829840T>C | CA413437103 | EFNB1 | c.64T>C (p.Cys22Arg)
| |
| X | g.68829840T>G | CA413437104 | EFNB1 | c.64T>G (p.Cys22Gly)
| |
| X | g.68829841del | CA2695234405 | EFNB1 | c.65del (p.Cys22SerfsTer24)
| |
| X | g.68829841G>A | CA413437105 | EFNB1 | c.65G>A (p.Cys22Tyr)
| |
| X | g.68829841G>C | CA413437106 | EFNB1 | c.65G>C (p.Cys22Ser)
| gnomAD v4 |
| X | g.68829841G>T | CA413437107 | EFNB1 | c.65G>T (p.Cys22Phe)
| |
| X | g.68829842C>A | CA413437108 | EFNB1 | c.66C>A (p.Cys22Ter)
| |
| X | g.68829842C>G | CA413437109 | EFNB1 | c.66C>G (p.Cys22Trp)
| |
| X | g.68829842C>T | CA516988552 | EFNB1 | c.66C>T (p.Cys22=)
| gnomAD v4 |
| X | g.68829843del | CA2695200222 | EFNB1 | c.67del (p.Arg23GlyfsTer23)
| ClinVar |
| X | g.68829843C>A | CA516988553 | EFNB1 | c.67C>A (p.Arg23=)
| gnomAD v4 |
| X | g.68829843C= | CA2435560639 | EFNB1 | c.67C= (p.Arg23=)
| |
| X | g.68829843C>G | CA413437111 | EFNB1 | c.67C>G (p.Arg23Gly)
| dbSNP gnomAD v2 |
| X | g.68829843C>T | CA413437110 | EFNB1 | c.67C>T (p.Arg23Trp)
| dbSNP gnomAD v4 |
| X | g.68829844G>A | CA413437112 | EFNB1 | c.68G>A (p.Arg23Gln)
| |
| X | g.68829844G>C | CA413437113 | EFNB1 | c.68G>C (p.Arg23Pro)
| |
| X | g.68829844G>T | CA413437114 | EFNB1 | c.68G>T (p.Arg23Leu)
| |
| X | g.68829845G>A | CA516988555 | EFNB1 | c.69G>A (p.Arg23=)
| gnomAD v4 |
| X | g.68829845G>C | CA516988556 | EFNB1 | c.69G>C (p.Arg23=)
| |
| X | g.68829845G>T | CA516988557 | EFNB1 | c.69G>T (p.Arg23=)
| gnomAD v4 |
| X | g.68829846C>A | CA413437115 | EFNB1 | c.70C>A (p.Leu24Ile)
| |
| X | g.68829846C= | CA2435560640 | EFNB1 | c.70C= (p.Leu24=)
| |
| X | g.68829846C>G | CA413437116 | EFNB1 | c.70C>G (p.Leu24Val)
| |
| X | g.68829846C>T | CA10438100 | EFNB1 | c.70C>T (p.Leu24Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.68829847T>A | CA413437117 | EFNB1 | c.71T>A (p.Leu24His)
| |
| X | g.68829847T>C | CA413437118 | EFNB1 | c.71T>C (p.Leu24Pro)
| |
| X | g.68829847T>G | CA413437119 | EFNB1 | c.71T>G (p.Leu24Arg)
| |
| X | g.68829848C>A | CA516988558 | EFNB1 | c.72C>A (p.Leu24=)
| |
| X | g.68829848C= | CA2435560641 | EFNB1 | c.72C= (p.Leu24=)
| |
| X | g.68829848C>G | CA516988559 | EFNB1 | c.72C>G (p.Leu24=)
| |
| X | g.68829848C>T | CA10438101 | EFNB1 | c.72C>T (p.Leu24=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.68829849G>A | CA413437120 | EFNB1 | c.73G>A (p.Ala25Thr)
| gnomAD v4 |
| X | g.68829849G>C | CA413437121 | EFNB1 | c.73G>C (p.Ala25Pro)
| dbSNP gnomAD v2 |
| X | g.68829849G= | CA2435560642 | EFNB1 | c.73G= (p.Ala25=)
| |
| X | g.68829849G>T | CA413437122 | EFNB1 | c.73G>T (p.Ala25Ser)
| gnomAD v4 |
| X | g.68829850C>A | CA413437125 | EFNB1 | c.74C>A (p.Ala25Asp)
| |
| X | g.68829850C>G | CA413437124 | EFNB1 | c.74C>G (p.Ala25Gly)
| |
| X | g.68829850C>T | CA413437123 | EFNB1 | c.74C>T (p.Ala25Val)
| |
| X | g.68829851C>A | CA516988560 | EFNB1 | c.75C>A (p.Ala25=)
| |
| X | g.68829851C>G | CA516988561 | EFNB1 | c.75C>G (p.Ala25=)
| |
| X | g.68829851C>T | CA516988562 | EFNB1 | c.75C>T (p.Ala25=)
| gnomAD v4 |
| X | g.68829852A>C | CA413437126 | EFNB1 | c.76A>C (p.Thr26Pro)
| |
| X | g.68829852A>G | CA413437127 | EFNB1 | c.76A>G (p.Thr26Ala)
| gnomAD v4 |
| X | g.68829852A>T | CA413437128 | EFNB1 | c.76A>T (p.Thr26Ser)
| |
| X | g.68829853C>A | CA413437129 | EFNB1 | c.77C>A (p.Thr26Lys)
| |
| X | g.68829853C>G | CA413437130 | EFNB1 | c.77C>G (p.Thr26Arg)
| |
| X | g.68829853C>T | CA413437131 | EFNB1 | c.77C>T (p.Thr26Ile)
| gnomAD v4 |
| X | g.68829854A= | CA2435560643 | EFNB1 | c.78A= (p.Thr26=)
| |
| X | g.68829854A>C | CA516988563 | EFNB1 | c.78A>C (p.Thr26=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.68829854A>G | CA516988564 | EFNB1 | c.78A>G (p.Thr26=)
| |
| X | g.68829854A>T | CA516988565 | EFNB1 | c.78A>T (p.Thr26=)
| |
| X | g.68829855C>A | CA413437132 | EFNB1 | c.79C>A (p.Pro27Thr)
| |
| X | g.68829855C>G | CA413437133 | EFNB1 | c.79C>G (p.Pro27Ala)
| |
| X | g.68829855C>T | CA413437134 | EFNB1 | c.79C>T (p.Pro27Ser)
| |
| X | g.68829856C>A | CA413437135 | EFNB1 | c.80C>A (p.Pro27Gln)
| |
| X | g.68829856C>G | CA413437136 | EFNB1 | c.80C>G (p.Pro27Arg)
| |
| X | g.68829856C>T | CA413437137 | EFNB1 | c.80C>T (p.Pro27Leu)
| |
| X | g.68829857G>A | CA516988566 | EFNB1 | c.81G>A (p.Pro27=)
| |
| X | g.68829857G>C | CA516988567 | EFNB1 | c.81G>C (p.Pro27=)
| |
| X | g.68829857G>T | CA516988568 | EFNB1 | c.81G>T (p.Pro27=)
| |
| X | g.68829858C>A | CA413437138 | EFNB1 | c.82C>A (p.Leu28Met)
| |
| X | g.68829858C>G | CA413437139 | EFNB1 | c.82C>G (p.Leu28Val)
| |
| X | g.68829858C>T | CA516988569 | EFNB1 | c.82C>T (p.Leu28=)
| |
| X | g.68829859T>A | CA413437142 | EFNB1 | c.83T>A (p.Leu28Gln)
| |
| X | g.68829859T>C | CA413437141 | EFNB1 | c.83T>C (p.Leu28Pro)
| |
| X | g.68829859T>G | CA413437140 | EFNB1 | c.83T>G (p.Leu28Arg)
| |
| X | g.68829859T= | CA2435560644 | EFNB1 | c.83T= (p.Leu28=)
| |
| X | g.68829860G>A | CA516988570 | EFNB1 | c.84G>A (p.Leu28=)
| gnomAD v4 |
| X | g.68829860G>C | CA516988571 | EFNB1 | c.84G>C (p.Leu28=)
| |
| X | g.68829860G>T | CA516988572 | EFNB1 | c.84G>T (p.Leu28=)
| |
| X | g.68829861dup | CA10603735 | EFNB1 | c.85dup (p.Ala29GlyfsTer?)
| ClinVar dbSNP |
| X | g.68829861G>A | CA413437143 | EFNB1 | c.85G>A (p.Ala29Thr)
| |
| X | g.68829861G>C | CA413437144 | EFNB1 | c.85G>C (p.Ala29Pro)
| |
| X | g.68829861G= | CA2435560645 | EFNB1 | c.85G= (p.Ala29=)
| |
| X | g.68829861G>T | CA10438102 | EFNB1 | c.85G>T (p.Ala29Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.68829862C>A | CA413437145 | EFNB1 | c.86C>A (p.Ala29Asp)
| gnomAD v4 |
| X | g.68829862C>G | CA413437146 | EFNB1 | c.86C>G (p.Ala29Gly)
| |
| X | g.68829862C>T | CA413437147 | EFNB1 | c.86C>T (p.Ala29Val)
| |
| X | g.68829863C>A | CA516988573 | EFNB1 | c.87C>A (p.Ala29=)
| |
| X | g.68829863C>G | CA516988574 | EFNB1 | c.87C>G (p.Ala29=)
| |
| X | g.68829863C>T | CA516988575 | EFNB1 | c.87C>T (p.Ala29=)
| |
| X | g.68829864A>C | CA413437148 | EFNB1 | c.88A>C (p.Lys30Gln)
| |
| X | g.68829864A>G | CA413437149 | EFNB1 | c.88A>G (p.Lys30Glu)
| |
| X | g.68829864A>T | CA413437150 | EFNB1 | c.88A>T (p.Lys30Ter)
| |
| X | g.68829864_68829865del | CA2695234406 | EFNB1 | c.88_89del (p.Lys30GlufsTer?)
| |
| X | g.68829865A>C | CA413437151 | EFNB1 | c.89A>C (p.Lys30Thr)
| |
| X | g.68829865A>G | CA413437152 | EFNB1 | c.89A>G (p.Lys30Arg)
| |
| X | g.68829865A>T | CA413437153 | EFNB1 | c.89A>T (p.Lys30Met)
| |
| X | g.68829866G>A | CA516988576 | EFNB1 | c.90G>A (p.Lys30=)
| |
| X | g.68829866G>C | CA413437154 | EFNB1 | c.90G>C (p.Lys30Asn)
| gnomAD v4 |
| X | g.68829866G>T | CA413437155 | EFNB1 | c.90G>T (p.Lys30Asn)
| gnomAD v4 |
| X | g.68829867A>C | CA413437157 | EFNB1 | c.91A>C (p.Asn31His)
| |
| X | g.68829867A>G | CA413437158 | EFNB1 | c.91A>G (p.Asn31Asp)
| |
| X | g.68829867A>T | CA413437156 | EFNB1 | c.91A>T (p.Asn31Tyr)
| |
| X | g.68829868A= | CA2435560646 | EFNB1 | c.92A= (p.Asn31=)
| |
| X | g.68829868A>C | CA413437159 | EFNB1 | c.92A>C (p.Asn31Thr)
| |
| X | g.68829868A>G | CA413437160 | EFNB1 | c.92A>G (p.Asn31Ser)
| |
| X | g.68829868A>T | CA413437161 | EFNB1 | c.92A>T (p.Asn31Ile)
| |
| X | g.68829869C>A | CA413437162 | EFNB1 | c.93C>A (p.Asn31Lys)
| |
| X | g.68829869C>G | CA413437163 | EFNB1 | c.93C>G (p.Asn31Lys)
| |
| X | g.68829869C>T | CA516988577 | EFNB1 | c.93C>T (p.Asn31=)
| |
| X | g.68829877_68829890dup | CA10581351 | EFNB1 | c.101_114dup (p.Ser39ProfsTer12)
| ClinVar dbSNP |
| X | g.68829877_68829890del | CA2579984143 | EFNB1 | c.101_114del (p.Pro34LeufsTer?)
| ClinVar |
| X | g.68829870C>A | CA413437165 | EFNB1 | c.94C>A (p.Leu32Met)
| |
| X | g.68829870C>G | CA413437164 | EFNB1 | c.94C>G (p.Leu32Val)
| |
| X | g.68829870C>T | CA516988578 | EFNB1 | c.94C>T (p.Leu32=)
| |
| X | g.68829871T>A | CA413437166 | EFNB1 | c.95T>A (p.Leu32Gln)
| |
| X | g.68829871T>C | CA413437167 | EFNB1 | c.95T>C (p.Leu32Pro)
| |
| X | g.68829871T>G | CA413437168 | EFNB1 | c.95T>G (p.Leu32Arg)
| |
| X | g.68829872G>A | CA516988579 | EFNB1 | c.96G>A (p.Leu32=)
| |
| X | g.68829872G>C | CA516988580 | EFNB1 | c.96G>C (p.Leu32=)
| |
| X | g.68829872G>T | CA516988581 | EFNB1 | c.96G>T (p.Leu32=)
| |
| X | g.68829873G>A | CA413437169 | EFNB1 | c.97G>A (p.Glu33Lys)
| |
| X | g.68829873G>C | CA413437170 | EFNB1 | c.97G>C (p.Glu33Gln)
| gnomAD v4 |
| X | g.68829873G>T | CA413437171 | EFNB1 | c.97G>T (p.Glu33Ter)
| |
| X | g.68829874A>C | CA413437172 | EFNB1 | c.98A>C (p.Glu33Ala)
| |
| X | g.68829874A>G | CA413437174 | EFNB1 | c.98A>G (p.Glu33Gly)
| gnomAD v4 |
| X | g.68829874A>T | CA413437173 | EFNB1 | c.98A>T (p.Glu33Val)
| |
| X | g.68829875G>A | CA516988582 | EFNB1 | c.99G>A (p.Glu33=)
| gnomAD v4 |
| X | g.68829875G>C | CA413437175 | EFNB1 | c.99G>C (p.Glu33Asp)
| |
| X | g.68829875G= | CA2435560647 | EFNB1 | c.99G= (p.Glu33=)
| |
| X | g.68829875G>T | CA10438103 | EFNB1 | c.99G>T (p.Glu33Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.68829876C>A | CA413437176 | EFNB1 | c.100C>A (p.Pro34Thr)
| |
| X | g.68829876C= | CA2435560648 | EFNB1 | c.100C= (p.Pro34=)
| |
| X | g.68829876C>G | CA413437177 | EFNB1 | c.100C>G (p.Pro34Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.68829876C>T | CA413437178 | EFNB1 | c.100C>T (p.Pro34Ser)
| dbSNP gnomAD v2 |
| X | g.68829877C>A | CA413437179 | EFNB1 | c.101C>A (p.Pro34His)
| |
| X | g.68829877C>G | CA413437180 | EFNB1 | c.101C>G (p.Pro34Arg)
| |
| X | g.68829877C>T | CA413437181 | EFNB1 | c.101C>T (p.Pro34Leu)
| |
| X | g.68829878C>A | CA516988583 | EFNB1 | c.102C>A (p.Pro34=)
| gnomAD v4 |
| X | g.68829878C= | CA2435560649 | EFNB1 | c.102C= (p.Pro34=)
| |
| X | g.68829878C>G | CA516988584 | EFNB1 | c.102C>G (p.Pro34=)
| dbSNP gnomAD v4 |
| X | g.68829878C>T | CA516988585 | EFNB1 | c.102C>T (p.Pro34=)
| gnomAD v4 |
| X | g.68829879G>A | CA330857232 | EFNB1 | c.103G>A (p.Val35Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.68829879G>C | CA413437182 | EFNB1 | c.103G>C (p.Val35Leu)
| |
| X | g.68829879G= | CA2435560650 | EFNB1 | c.103G= (p.Val35=)
| |
| X | g.68829879G>T | CA413437183 | EFNB1 | c.103G>T (p.Val35Leu)
| |
| X | g.68829880T>A | CA413437184 | EFNB1 | c.104T>A (p.Val35Glu)
| |
| X | g.68829880T>C | CA413437186 | EFNB1 | c.104T>C (p.Val35Ala)
| gnomAD v4 |
| X | g.68829880T>G | CA413437185 | EFNB1 | c.104T>G (p.Val35Gly)
| |
| X | g.68829881A>C | CA516988586 | EFNB1 | c.105A>C (p.Val35=)
| |
| X | g.68829881A>G | CA516988588 | EFNB1 | c.105A>G (p.Val35=)
| dbSNP |
| X | g.68829881A>T | CA516988587 | EFNB1 | c.105A>T (p.Val35=)
| |
| X | g.68829882T>A | CA413437187 | EFNB1 | c.106T>A (p.Ser36Thr)
| |
| X | g.68829882T>C | CA413437188 | EFNB1 | c.106T>C (p.Ser36Pro)
| |
| X | g.68829882T>G | CA413437189 | EFNB1 | c.106T>G (p.Ser36Ala)
| |
| X | g.68829883C>A | CA413437190 | EFNB1 | c.107C>A (p.Ser36Tyr)
| dbSNP |
| X | g.68829883C= | CA2435560651 | EFNB1 | c.107C= (p.Ser36=)
| |
| X | g.68829883C>G | CA413437191 | EFNB1 | c.107C>G (p.Ser36Cys)
| |
| X | g.68829883C>T | CA413437192 | EFNB1 | c.107C>T (p.Ser36Phe)
| dbSNP gnomAD v4 |
| X | g.68829884C>A | CA516988589 | EFNB1 | c.108C>A (p.Ser36=)
| |
| X | g.68829884C>G | CA516988590 | EFNB1 | c.108C>G (p.Ser36=)
| |
| X | g.68829884C>T | CA516988591 | EFNB1 | c.108C>T (p.Ser36=)
| dbSNP |
| X | g.68829885T>A | CA413437194 | EFNB1 | c.109T>A (p.Trp37Arg)
| gnomAD v4 |
| X | g.68829885T>C | CA413437193 | EFNB1 | c.109T>C (p.Trp37Arg)
| |
| X | g.68829885T>G | CA121638 | EFNB1 | c.109T>G (p.Trp37Gly)
| ClinVar dbSNP |
| X | g.68829885T= | CA2435560652 | EFNB1 | c.109T= (p.Trp37=)
| |
| X | g.68829886G>A | CA121640 | EFNB1 | c.110G>A (p.Trp37Ter)
| ClinVar dbSNP |
| X | g.68829886G>C | CA413437195 | EFNB1 | c.110G>C (p.Trp37Ser)
| |
| X | g.68829886G= | CA2435560653 | EFNB1 | c.110G= (p.Trp37=)
| |
| X | g.68829886G>T | CA413437196 | EFNB1 | c.110G>T (p.Trp37Leu)
| |
| X | g.68829887G>A | CA413437197 | EFNB1 | c.111G>A (p.Trp37Ter)
| ClinVar dbSNP |
| X | g.68829887G>C | CA413437198 | EFNB1 | c.111G>C (p.Trp37Cys)
| |
| X | g.68829887G>T | CA413437199 | EFNB1 | c.111G>T (p.Trp37Cys)
| |
| X | g.68829888A>C | CA413437200 | EFNB1 | c.112A>C (p.Ser38Arg)
| |
| X | g.68829888A>G | CA413437202 | EFNB1 | c.112A>G (p.Ser38Gly)
| |
| X | g.68829888A>T | CA413437201 | EFNB1 | c.112A>T (p.Ser38Cys)
| |
| X | g.68829889G>A | CA413437203 | EFNB1 | c.113G>A (p.Ser38Asn)
| |
| X | g.68829889G>C | CA413437204 | EFNB1 | c.113G>C (p.Ser38Thr)
| |
| X | g.68829889G>T | CA413437205 | EFNB1 | c.113G>T (p.Ser38Ile)
| |
| X | g.68829890C>A | CA413437206 | EFNB1 | c.114C>A (p.Ser38Arg)
| |
| X | g.68829890C= | CA2435560654 | EFNB1 | c.114C= (p.Ser38=)
| |
| X | g.68829890C>G | CA413437207 | EFNB1 | c.114C>G (p.Ser38Arg)
| |
| X | g.68829890C>T | CA516988592 | EFNB1 | c.114C>T (p.Ser38=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.68829891T>A | CA413437208 | EFNB1 | c.115T>A (p.Ser39Thr)
| |
| X | g.68829891T>C | CA413437209 | EFNB1 | c.115T>C (p.Ser39Pro)
| |
| X | g.68829891T>G | CA413437210 | EFNB1 | c.115T>G (p.Ser39Ala)
| |
| X | g.68829892C>A | CA413437211 | EFNB1 | c.116C>A (p.Ser39Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.68829892C= | CA2435560655 | EFNB1 | c.116C= (p.Ser39=)
| |
| X | g.68829892C>G | CA413437212 | EFNB1 | c.116C>G (p.Ser39Cys)
| |
| X | g.68829892C>T | CA413437213 | EFNB1 | c.116C>T (p.Ser39Phe)
| gnomAD v4 |
| X | g.68829893C>A | CA516988593 | EFNB1 | c.117C>A (p.Ser39=)
| |
| X | g.68829893C>G | CA516988594 | EFNB1 | c.117C>G (p.Ser39=)
| |
| X | g.68829893C>T | CA516988595 | EFNB1 | c.117C>T (p.Ser39=)
| |
| X | g.68829894C>A | CA413437214 | EFNB1 | c.118C>A (p.Leu40Ile)
| gnomAD v4 |
| X | g.68829894C= | CA2435560656 | EFNB1 | c.118C= (p.Leu40=)
| |
| X | g.68829894C>G | CA413437216 | EFNB1 | c.118C>G (p.Leu40Val)
| dbSNP gnomAD v4 |
| X | g.68829894C>T | CA413437215 | EFNB1 | c.118C>T (p.Leu40Phe)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.68829895T>A | CA413437217 | EFNB1 | c.119T>A (p.Leu40His)
| |
| X | g.68829895T>C | CA413437218 | EFNB1 | c.119T>C (p.Leu40Pro)
| |
| X | g.68829895T>G | CA413437219 | EFNB1 | c.119T>G (p.Leu40Arg)
| |
| X | g.68829896C>A | CA516988598 | EFNB1 | c.120C>A (p.Leu40=)
| gnomAD v4 |
| X | g.68829896C>G | CA516988596 | EFNB1 | c.120C>G (p.Leu40=)
| gnomAD v4 |
| X | g.68829896C>T | CA516988597 | EFNB1 | c.120C>T (p.Leu40=)
| |
| X | g.68829897A>C | CA413437220 | EFNB1 | c.121A>C (p.Asn41His)
| |
| X | g.68829897A>G | CA413437221 | EFNB1 | c.121A>G (p.Asn41Asp)
| |
| X | g.68829897A>T | CA413437222 | EFNB1 | c.121A>T (p.Asn41Tyr)
| gnomAD v4 |
| X | g.68829898A>C | CA413437223 | EFNB1 | c.122A>C (p.Asn41Thr)
| |
| X | g.68829898A>G | CA413437224 | EFNB1 | c.122A>G (p.Asn41Ser)
| |
| X | g.68829898A>T | CA413437225 | EFNB1 | c.122A>T (p.Asn41Ile)
| |
| X | g.68829899C>A | CA413437226 | EFNB1 | c.123C>A (p.Asn41Lys)
| |
| X | g.68829899C>G | CA413437227 | EFNB1 | c.123C>G (p.Asn41Lys)
| |
| X | g.68829899C>T | CA516988599 | EFNB1 | c.123C>T (p.Asn41=)
| |
| X | g.68829900C>A | CA413437230 | EFNB1 | c.124C>A (p.Pro42Thr)
| gnomAD v4 |
| X | g.68829900C= | CA2435560657 | EFNB1 | c.124C= (p.Pro42=)
| |
| X | g.68829900C>G | CA413437229 | EFNB1 | c.124C>G (p.Pro42Ala)
| |
| X | g.68829900C>T | CA413437228 | EFNB1 | c.124C>T (p.Pro42Ser)
| dbSNP gnomAD v4 |
| X | g.68829901C>A | CA413437231 | EFNB1 | c.125C>A (p.Pro42His)
| gnomAD v4 |
| X | g.68829901C>G | CA413437232 | EFNB1 | c.125C>G (p.Pro42Arg)
| |
| X | g.68829901C>T | CA413437233 | EFNB1 | c.125C>T (p.Pro42Leu)
| |
| X | g.68829902C>A | CA516988600 | EFNB1 | c.126C>A (p.Pro42=)
| |
| X | g.68829902C>G | CA516988602 | EFNB1 | c.126C>G (p.Pro42=)
| |
| X | g.68829902C>T | CA516988601 | EFNB1 | c.126C>T (p.Pro42=)
| gnomAD v4 |
| X | g.68829903A>C | CA413437234 | EFNB1 | c.127A>C (p.Lys43Gln)
| gnomAD v4 |
| X | g.68829903A>G | CA413437235 | EFNB1 | c.127A>G (p.Lys43Glu)
| gnomAD v4 |
| X | g.68829903A>T | CA413437236 | EFNB1 | c.127A>T (p.Lys43Ter)
| |
| X | g.68829904A>C | CA413437237 | EFNB1 | c.128A>C (p.Lys43Thr)
| |
| X | g.68829904A>G | CA413437238 | EFNB1 | c.128A>G (p.Lys43Arg)
| |
| X | g.68829904A>T | CA413437239 | EFNB1 | c.128A>T (p.Lys43Met)
| |
| X | g.68829905G>A | CA413437240 | EFNB1 | c.128+1G>A (n.128+1G>A)
| |
| X | g.68829905G>C | CA413437241 | EFNB1 | c.128+1G>C (n.128+1G>C)
| ClinVar dbSNP |
| X | g.68829905G>T | CA413437242 | EFNB1 | c.128+1G>T (n.128+1G>T)
| |
| X | g.68829906T>A | CA413437245 | EFNB1 | c.128+2T>A (n.128+2T>A)
| ClinVar dbSNP |
| X | g.68829906T>C | CA413437244 | EFNB1 | c.128+2T>C (n.128+2T>C)
| |
| X | g.68829906T>G | CA413437243 | EFNB1 | c.128+2T>G (n.128+2T>G)
| |
| X | g.68829906T= | CA2435560658 | EFNB1 | c.128+2T= (n.128+2T=)
| |
| X | g.68829906_68829907insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTG | CA2738733766 | EFNB1 | c.128+2_128+3insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTG (n.128+2_128+3insTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTG)
| dbSNP |
| X | g.68829909G>A | CA1139667615 | EFNB1 | c.128+5G>A (n.128+5G>A)
| ClinVar dbSNP |
| X | g.68829909G>C | CA2695234407 | EFNB1 | c.128+5G>C (n.128+5G>C)
| |
| X | g.68829909G= | CA2435560659 | EFNB1 | c.128+5G= (n.128+5G=)
| |
| X | g.68829910T>A | CA2693969623 | EFNB1 | c.128+6T>A (n.128+6T>A)
| gnomAD v4 |
| X | g.68829911A>G | CA2693969624 | EFNB1 | c.128+7A>G (n.128+7A>G)
| gnomAD v4 |
| X | g.68829912A>G | CA2693969625 | EFNB1 | c.128+8A>G (n.128+8A>G)
| gnomAD v4 |
| X | g.68829913C= | CA2435560660 | EFNB1 | c.128+9C= (n.128+9C=)
| |
| X | g.68829913C>T | CA2435560661 | EFNB1 | c.128+9C>T (n.128+9C>T)
| ClinVar dbSNP |
| X | g.68829914T>G | CA2693969627 | EFNB1 | c.128+10T>G (n.128+10T>G)
| gnomAD v4 |
| X | g.68829914_68829915del | CA2693969626 | EFNB1 | c.128+10_128+11del (n.128+10_128+11del)
| gnomAD v4 |
| X | g.68829916A= | CA2435560662 | EFNB1 | c.128+12A= (n.128+12A=)
| |
| X | g.68829916A>G | CA2435560663 | EFNB1 | c.128+12A>G (n.128+12A>G)
| dbSNP |
| X | g.68829917T>C | CA330857233 | EFNB1 | c.128+13T>C (n.128+13T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.68829917T= | CA2435560664 | EFNB1 | c.128+13T= (n.128+13T=)
| |
| X | g.68829918C>A | CA2693969628 | EFNB1 | c.128+14C>A (n.128+14C>A)
| gnomAD v4 |
| X | g.68829918C= | CA2435560665 | EFNB1 | c.128+14C= (n.128+14C=)
| |
| X | g.68829918C>G | CA2435560666 | EFNB1 | c.128+14C>G (n.128+14C>G)
| dbSNP |
| X | g.68829918C>T | CA2693969629 | EFNB1 | c.128+14C>T (n.128+14C>T)
| gnomAD v4 |
| X | g.68829920C>A | CA2821649590 | EFNB1 | c.128+16C>A (n.128+16C>A)
| |
| X | g.68829920C= | CA2435560667 | EFNB1 | c.128+16C= (n.128+16C=)
| |
| X | g.68829920C>G | CA2693969630 | EFNB1 | c.128+16C>G (n.128+16C>G)
| gnomAD v4 |
| X | g.68829920C>T | CA877662363 | EFNB1 | c.128+16C>T (n.128+16C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.68829921C>T | CA2540909162 | EFNB1 | c.128+17C>T (n.128+17C>T)
| gnomAD v4 |
| X | g.68829922T>A | CA2693969631 | EFNB1 | c.128+18T>A (n.128+18T>A)
| gnomAD v4 |
| X | g.68829923C= | CA2435560668 | EFNB1 | c.128+19C= (n.128+19C=)
| |
| X | g.68829923C>T | CA642410816 | EFNB1 | c.128+19C>T (n.128+19C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.68829925G>A | CA642410819 | EFNB1 | c.128+21G>A (n.128+21G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.68829925G= | CA2435560669 | EFNB1 | c.128+21G= (n.128+21G=)
| |
| X | g.68829926G>A | CA2821649591 | EFNB1 | c.128+22G>A (n.128+22G>A)
| |
| X | g.68829926G= | CA2435560670 | EFNB1 | c.128+22G= (n.128+22G=)
| |
| X | g.68829926G>T | CA2821649592 | EFNB1 | c.128+22G>T (n.128+22G>T)
| |
| X | g.68829926_68829927insT | CA2435560671 | EFNB1 | c.128+22_128+23insT (n.128+22_128+23insT)
| dbSNP |
| X | g.68829927A>G | CA2738733769 | EFNB1 | c.128+23A>G (n.128+23A>G)
| dbSNP |
| X | g.68829927A>T | CA2548634227 | EFNB1 | c.128+23A>T (n.128+23A>T)
| |
| X | g.68829928C>A | CA2821649593 | EFNB1 | c.128+24C>A (n.128+24C>A)
| |
| X | g.68829928C>T | CA2693969632 | EFNB1 | c.128+24C>T (n.128+24C>T)
| gnomAD v4 |
| X | g.68829929G>A | CA2579632101 | EFNB1 | c.128+25G>A (n.128+25G>A)
| gnomAD v4 |
| X | g.68829929G>C | CA2570112683 | EFNB1 | c.128+25G>C (n.128+25G>C)
| |
| X | g.68829929G= | CA2435560672 | EFNB1 | c.128+25G= (n.128+25G=)
| |
| X | g.68829929G>T | CA10438104 | EFNB1 | c.128+25G>T (n.128+25G>T)
| dbSNP ExAC gnomAD v2 |
| X | g.68829931T>C | CA2821649594 | EFNB1 | c.128+27T>C (n.128+27T>C)
| |
| X | g.68829931T= | CA2435560673 | EFNB1 | c.128+27T= (n.128+27T=)
| |
| X | g.68829932G>A | CA642410824 | EFNB1 | c.128+28G>A (n.128+28G>A)
| dbSNP gnomAD v2 |
| X | g.68829932G>C | CA2693969633 | EFNB1 | c.128+28G>C (n.128+28G>C)
| gnomAD v4 |
| X | g.68829932G= | CA2435560674 | EFNB1 | c.128+28G= (n.128+28G=)
| |
| X | g.68829932G>T | CA2516703715 | EFNB1 | c.128+28G>T (n.128+28G>T)
| gnomAD v4 |
| X | g.68829935dup | CA2435560675 | EFNB1 | c.128+31dup (n.128+31dup)
| dbSNP |
| X | g.68829935del | CA2579632102 | EFNB1 | c.128+31del (n.128+31del)
| |
| X | g.68829932_68829933insA | CA2557028349 | EFNB1 | c.128+28_128+29insA (n.128+28_128+29insA)
| |
| X | g.68829933G>T | CA2693969634 | EFNB1 | c.128+29G>T (n.128+29G>T)
| gnomAD v4 |
| X | g.68829934G>C | CA2693969635 | EFNB1 | c.128+30G>C (n.128+30G>C)
| gnomAD v4 |
| X | g.68829935G>A | CA642410826 | EFNB1 | c.128+31G>A (n.128+31G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.68829935G= | CA2435560676 | EFNB1 | c.128+31G= (n.128+31G=)
| |
| X | g.68829935_68829936delinsGT | CA2435560677 | EFNB1 | c.128+31_128+32delinsGT (n.128+31_128+32delinsGT)
| |
| X | g.68829936del | CA1133959632 | EFNB1 | c.128+32del (n.128+32del)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.68829936T>A | CA2435560679 | EFNB1 | c.128+32T>A (n.128+32T>A)
| dbSNP |
| X | g.68829936T= | CA2435560678 | EFNB1 | c.128+32T= (n.128+32T=)
| |
| X | g.68829937G>A | CA1133959635 | EFNB1 | c.128+33G>A (n.128+33G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.68829937G= | CA2435560680 | EFNB1 | c.128+33G= (n.128+33G=)
| |
| X | g.68829937G>T | CA2693969636 | EFNB1 | c.128+33G>T (n.128+33G>T)
| gnomAD v4 |
| X | g.68829938G>A | CA642410829 | EFNB1 | c.128+34G>A (n.128+34G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.68829938G= | CA2435560681 | EFNB1 | c.128+34G= (n.128+34G=)
| |
| X | g.68829938_68829939insA | CA2435560684 | EFNB1 | c.128+34_128+35insA (n.128+34_128+35insA)
| dbSNP |
| X | g.68829939G= | CA2435560683 | EFNB1 | c.128+35G= (n.128+35G=)
| |
| X | g.68829939G>T | CA2435560682 | EFNB1 | c.128+35G>T (n.128+35G>T)
| dbSNP gnomAD v4 |
| X | g.68829940A= | CA2435560685 | EFNB1 | c.128+36A= (n.128+36A=)
| |
| X | g.68829940A>C | CA2435560686 | EFNB1 | c.128+36A>C (n.128+36A>C)
| dbSNP |
